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Factor XIII, A subunit, deficiency of

MedGen UID:
442497
Concept ID:
C2750514
Finding
Synonym: Factor XIII subunit A deficiency
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): F13A1 (6p25.1)
 
HPO: HP:0040233
Monarch Initiative: MONDO:0013187
OMIM®: 613225

Definition

Factor XIII deficiency is an autosomal recessive hematologic disorder characterized by increased bleeding and poor wound healing. Most cases of congenital factor XIII deficiency result from mutation in the A subunit (Kangsadalampai et al., 1999). Ichinose et al. (1996, 2000) proposed a classification of factor XIII deficiency: XIIIA deficiency (formerly 'type II' F13 deficiency) and XIIIB deficiency (formerly 'type I' F13 deficiency), as well as a possible combined deficiency of the 2. [from OMIM]

Additional description

From MedlinePlus Genetics
Acquired factor XIII deficiency becomes apparent later in life. People with the acquired form are less likely to have severe or life-threatening episodes of abnormal bleeding than those with the inherited form.\n\nSigns and symptoms of inherited factor XIII deficiency begin soon after birth, usually with abnormal bleeding from the umbilical cord stump. If the condition is not treated, affected individuals may have episodes of excessive and prolonged bleeding that can be life-threatening. Abnormal bleeding can occur after surgery or minor trauma. The condition can also cause spontaneous bleeding into the joints or muscles, leading to pain and disability. Women with inherited factor XIII deficiency tend to have heavy or prolonged menstrual bleeding (menorrhagia) and may experience recurrent pregnancy losses (miscarriages). Other signs and symptoms of inherited factor XIII deficiency include nosebleeds, bleeding of the gums, easy bruising, problems with wound healing, bleeding after surgery, and abnormal scar formation. Inherited factor XIII deficiency also increases the risk of spontaneous bleeding inside the skull (intracranial hemorrhage), which is the leading cause of death in people with this condition.\n\nFactor XIII deficiency is a rare bleeding disorder. Researchers have identified an inherited form and a less severe form that is acquired during a person's lifetime.  https://medlineplus.gov/genetics/condition/factor-xiii-deficiency

Clinical features

From HPO
Ecchymosis
MedGen UID:
8524
Concept ID:
C0013491
Finding
A purpuric lesion that is larger than 1 cm in diameter.
Joint hemorrhage
MedGen UID:
5479
Concept ID:
C0018924
Pathologic Function
Hemorrhage occurring within a joint.
Intracranial hemorrhage
MedGen UID:
101799
Concept ID:
C0151699
Pathologic Function
Bleeding within the cranium.
Bruising susceptibility
MedGen UID:
140849
Concept ID:
C0423798
Finding
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
Spontaneous hematomas
MedGen UID:
306397
Concept ID:
C1697453
Disease or Syndrome
Spontaneous development of hematomas (hematoma) or bruises without significant trauma.
Intracranial hemorrhage
MedGen UID:
101799
Concept ID:
C0151699
Pathologic Function
Bleeding within the cranium.
Ecchymosis
MedGen UID:
8524
Concept ID:
C0013491
Finding
A purpuric lesion that is larger than 1 cm in diameter.
Epistaxis
MedGen UID:
4996
Concept ID:
C0014591
Pathologic Function
Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.
Joint hemorrhage
MedGen UID:
5479
Concept ID:
C0018924
Pathologic Function
Hemorrhage occurring within a joint.
Intracranial hemorrhage
MedGen UID:
101799
Concept ID:
C0151699
Pathologic Function
Bleeding within the cranium.
Bruising susceptibility
MedGen UID:
140849
Concept ID:
C0423798
Finding
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
Abnormal bleeding
MedGen UID:
264316
Concept ID:
C1458140
Pathologic Function
An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.
Spontaneous hematomas
MedGen UID:
306397
Concept ID:
C1697453
Disease or Syndrome
Spontaneous development of hematomas (hematoma) or bruises without significant trauma.
Reduced factor XIII activity
MedGen UID:
870254
Concept ID:
C4024692
Finding
Decreased activity of coagulation factor XIII (also known as fibrin stabilizing factor). Activated Factor XIII cross-links fibrin polymers solidifying the clot.
Joint hemorrhage
MedGen UID:
5479
Concept ID:
C0018924
Pathologic Function
Hemorrhage occurring within a joint.
Epistaxis
MedGen UID:
4996
Concept ID:
C0014591
Pathologic Function
Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.
Ecchymosis
MedGen UID:
8524
Concept ID:
C0013491
Finding
A purpuric lesion that is larger than 1 cm in diameter.
Bruising susceptibility
MedGen UID:
140849
Concept ID:
C0423798
Finding
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
Spontaneous hematomas
MedGen UID:
306397
Concept ID:
C1697453
Disease or Syndrome
Spontaneous development of hematomas (hematoma) or bruises without significant trauma.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFactor XIII, A subunit, deficiency of

Recent clinical studies

Etiology

Kerlin BA, Inbal A, Will A, Williams M, Garly ML, Jacobsen L, Kearney SL
J Thromb Haemost 2017 Aug;15(8):1601-1606. Epub 2017 Jul 10 doi: 10.1111/jth.13748. PMID: 28581691

Diagnosis

Kerlin BA, Inbal A, Will A, Williams M, Garly ML, Jacobsen L, Kearney SL
J Thromb Haemost 2017 Aug;15(8):1601-1606. Epub 2017 Jul 10 doi: 10.1111/jth.13748. PMID: 28581691
Ivaškevičius V, Goldmann G, Biswas A, Westhofen P, Thomas A, Marquardt N, Horneff S, Klein C, Rühl H, Pötzsch B, Oldenburg J
Hamostaseologie 2015;35 Suppl 1:S32-5. PMID: 26540128

Therapy

Kerlin BA, Inbal A, Will A, Williams M, Garly ML, Jacobsen L, Kearney SL
J Thromb Haemost 2017 Aug;15(8):1601-1606. Epub 2017 Jul 10 doi: 10.1111/jth.13748. PMID: 28581691

Prognosis

Ivaškevičius V, Goldmann G, Biswas A, Westhofen P, Thomas A, Marquardt N, Horneff S, Klein C, Rühl H, Pötzsch B, Oldenburg J
Hamostaseologie 2015;35 Suppl 1:S32-5. PMID: 26540128

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